BBAuthors: Sylvester, Charles; Advisor: -; Participants: Kundapur, Rajesh; Maruthy, Santosh (2022)
In this study, massively parallel sequencing of the three genes GNPTAB, GNPTG, and NAGPA identified 41 iSNVs in 79 samples (75 males and 4 females; mean age ± SD = 26 ± 6.49 years). Among the indexed patients, mild stuttering (46%) was more prevalent followed by moderate (36%) and severe (18%) and all the study participants were of south Indian descent. Allele frequencies of the 41 iSNVs were compared with the allele frequencies of the South Asian record and total allele frequency record using the gnomAD database; the allele frequency was highly significant and consistent with both south Asian (p = 0.001) and total allele frequency (p = 0.001) from gnomAD database (Table 1). 
